Possible mitochondrial disorder - nuclear genes
Gene: YARS2

YARS2 (tyrosyl-tRNA synthetase 2)
EnsemblGeneIds (GRCh38): ENSG00000139131
EnsemblGeneIds (GRCh37): ENSG00000139131
OMIM: 610957, Gene2Phenotype
YARS2 is in 10 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 15 Mar 2016, 8:32 a.m.

Comment on list classification: Carl Fratter also confirmed that this gene should be green.
Created: 15 Mar 2016, 8:31 a.m.

Created: 15 Mar 2016, 8:31 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.518

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561

OMIM

610957

Clinvar variants

Variants in YARS2

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: YARS2 was added gene: YARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561

Possible mitochondrial disorder - nuclear genes Gene: YARS2